Type III hyperlipoproteinemia associated with apolipoprotein E deficiency.
Subjects with type III hyperlipoproteinemia develop premature atherosclerosis and have hyperlipidemia due to an increase in cholesterol-rich very low density lipoproteins (VLDL) of abnormal electrophoretic mobility. Apolipoprotein E is a major protein constituent of VLDL and appears to be important for the hepatic uptake of triglyceride-rich lipoproteins. A new kindred of patients with type III hyperlipoproteinemia is described in which no plasma apolipoprotein E could be detected, consistent with the concept that type III hyperlipoproteinemia may be due to an absence or striking deficiency of apolipoprotein E.
D001053:Apolipoproteins / Q000097:blood / Q000172:deficiency*; D001057:Apolipoproteins E; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000097:blood* / Q000235:genetics; D005779:Immunodiffusion; D008075:Lipoproteins, HDL / Q000097:blood / Q000172:deficiency*; D008079:Lipoproteins, VLDL / Q000097:blood / Q000172:deficiency*; D010375:Pedigree; D012016:Reference Values
D001053:Apolipoproteins; D001057:Apolipoproteins E; D008075:Lipoproteins, HDL; D008079:Lipoproteins, VLDL